A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16054569



Internal ID2361074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:39629585..39634591hg38UCSC Ensembl
Innerchr19:39629735..39634441hg38UCSC Ensembl
Outerchr19:39629435..39634741hg38UCSC Ensembl
chr19:40120225..40125231hg19UCSC Ensembl
Innerchr19:40120375..40125081hg19UCSC Ensembl
Outerchr19:40120075..40125381hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385007
hg195007
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644333
Supporting Variants
SamplesHG02089
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16054569
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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